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Descriptor English: Presenilin-1
Descriptor Spanish: Presenilina-1
Descriptor presenilina 1
Scope note: Proteína integral de la membrana del aparato de Golgi y del retículo endoplasmático. Su homodímero es un componente esencial del complejo gamma-secretasa que cataliza el desdoblamiento de lproteínas de membrana tales como los precursores de los RECEPTORES NOTCH y de la PROTEÍNA BETA AMILOIDE. Las mutaciones en PSEN1 causan un comienzo precoz de la ENFERMEDAD DE ALZHEIMER de tipo 3, que puede producirse en una edad tan temprana como 30 años en humanos.
Descriptor Portuguese: Presenilina-1
Descriptor French: Préséniline-1
Entry term(s): Presenilin 1
S182 Protein
Tree number(s): D12.776.543.696.500
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D053764
Scope note: Integral membrane protein of Golgi and endoplasmic reticulum. Its homodimer is an essential component of the gamma-secretase complex that catalyzes the cleavage of membrane proteins such as NOTCH RECEPTORS and AMYLOID BETA-PEPTIDES precursors. PSEN1 mutations cause early-onset ALZHEIMER DISEASE type 3 that may occur as early as 30 years of age in humans.
Allowable Qualifiers: AD administration & dosage
AE adverse effects
AG agonists
AI antagonists & inhibitors
AN analysis
BI biosynthesis
BL blood
CF cerebrospinal fluid
CH chemistry
CL classification
CS chemical synthesis
DE drug effects
DF deficiency
EC economics
GE genetics
HI history
IM immunology
IP isolation & purification
ME metabolism
PD pharmacology
PH physiology
PK pharmacokinetics
PO poisoning
RE radiation effects
SD supply & distribution
ST standards
TO toxicity
TU therapeutic use
UL ultrastructure
UR urine
Previous Indexing: Alzheimer Disease (1995-2006)
Membrane Proteins (1995-2006)
Public MeSH Note: 2007; was indexed under MEMBRANE PROTEINS 1995-2006
History Note: 2007
DeCS ID: 52334
Unique ID: D053764
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2007/01/01
Date of Entry: 2006/07/05
Revision Date: 2010/06/25
Presenilin-1 - Preferred
Concept UI M0248671
Scope note Integral membrane protein of Golgi and endoplasmic reticulum. Its homodimer is an essential component of the gamma-secretase complex that catalyzes the cleavage of membrane proteins such as NOTCH RECEPTORS and AMYLOID BETA-PEPTIDES precursors. PSEN1 mutations cause early-onset ALZHEIMER DISEASE type 3 that may occur as early as 30 years of age in humans.
Preferred term Presenilin-1
Entry term(s) Presenilin 1
S182 Protein



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